Professionals

Prevalence
The AP3D1-associated multisystem disorder is rare and its prevalence is unknown.

Clinical characteristics
Individuals with AP3D1-associated multisystem disorder show oculocutaneous albinism, immunodeficiency, additionally with a variety of multisystem abnormalities (e.g., neurodevelopmental delay, microcephaly).

Molecular characteristics
Homozygous variants in AP3D1 cause the autosomal recessive multisystem disorder Hermansky-Pudlak syndrome 10.

Management
Treatment is symptomatic and multidisciplinary.